Musings from a mother of a beautiful child with special needs to the tune of developmental delays, seizures, low muscle tone (hypotonia), hip dysplasia, gastroparesis, non-verbal, with no formal diagnosis. I want to share my experiences and my silly, fun, amazing daughter to hopefully connect with other parents as well as find more possible diagnoses.

Sunday, March 21, 2010

8 years ago today, on the 2nd day of spring.... a darling little angel girl was born! Katie's 8th birthday is today. I can't believe it! We celebrated by attending a friend's daughter's 8th birthday and she had pony rides!!! Where does the time go?

Monday, March 15, 2010

A few months ago, Katie had a microarray and urinalysis done to look for genetic abnormalities. She has hallmark features of a genetic syndrome, like some of her (adorable) facial characteristics. So the microarray was a new hope as it would look for many different issues rather than only a narrow range of syndromes. It has been several years since she has had any genetic testing done, so I was hopeful that a new hospital, new geneticist, and new technology would give us a road map for Katie.

No luck. Everything came back spotlessly "normal". Sometimes people say to me, "Oh, that's good!" I can't help but cringe. It is most definitely NOT good. There is clearly something hindering Katie's development, and it would be extremely helpful to know what that something is. I realize, as I have for many years now, that it IS good that she doesn't have an obvious, debilitating condition. I am grateful for her overall good health.

But it would be so nice to know what to look out for and to know what challenges might be waiting down the road for us so that we can be prepared and proactive. I know that a diagnosis would not reduce her need for physical, occupational, and speech therapy. I know it won't magically make her "better". I just find it so hard not to have a name for the syndrome that has made life difficult for my daughter and has changed motherhood as I anticipated it.

Sometimes it may seem selfish that I wish to have a diagnosis to "blame" for Katie's disability. But I would much rather look at a syndrome with frustration than to have someone say "Well, that's just Katie". It isn't Katie. It is what has trapped her in this little body and stripped her of her ability to speak, run, and do the other things that life offers. I see the beauty in her little face and fantastic personality. I see how she shows love and joy so easily. But I also see her struggle and get frustrated at this world that is sometimes so hard to understand. Hopefully someday we will have a diagnosis for that.

Want one!!! Madsen Cycles

The Katie Puzzle

Katie's pediatrician has always said that kids like Katie "keep her humble". Katie's challenges are obvious and yet no medical testing that we have tried has yielded any results outside of the normal range. This has been beyond frustrating as there is clearly something "up", and yet nothing to validate it.

I believe that as I continue to present the pieces of her puzzle to specialists we encounter, eventually the pieces will all fit into place and we will have an answer. The desire for a diagnosis is based simply on the need for answers and to find a road map, a prognosis of where we are heading as well as things we need to look out for along the way.

Katie presents me with new challenges every few years such as her sudden development of seizures. I know that a diagnosis would not change her need for physical, occupational, and speech therapy as well as the close following of a few dedicated medical professionals. But to have a more clear picture of what she is capable of, what other children with her diagnosis need and achieve... would be invaluable.